Q48* (p.Gln48Ter) variant of TNNI3 (Troponin I, cardiac muscle)
Q48* (p.Gln48Ter) in TNNI3 (Troponin I, cardiac muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- gnomAD rs1384960650
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 46.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available